Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.149570091_149570106del | CA2752638764 | MMADHC | c.759_774del (p.Phe254LeufsTer6) c.861_876del (p.Phe288LeufsTer6) | |
2 | g.149570103_149570104del | CA2580611694 | MMADHC | c.764_765del (p.Ser255CysfsTer2) c.866_867del (p.Ser289CysfsTer2) | ClinVar dbSNP |
2 | g.149570102A>C | CA348869251 | MMADHC | c.763T>G (p.Ser255Ala) c.865T>G (p.Ser289Ala) | |
2 | g.149570102A>G | CA348869252 | MMADHC | c.763T>C (p.Ser255Pro) c.865T>C (p.Ser289Pro) | |
2 | g.149570102A>T | CA348869255 | MMADHC | c.763T>A (p.Ser255Thr) c.865T>A (p.Ser289Thr) | |
2 | g.149570103G>A | CA429405929 | MMADHC | c.762C>T (p.Phe254=) c.864C>T (p.Phe288=) | |
2 | g.149570103G>C | CA348869257 | MMADHC | c.762C>G (p.Phe254Leu) c.864C>G (p.Phe288Leu) | gnomAD v4 |
2 | g.149570103G= | CA1297264319 | MMADHC | c.762C= (p.Phe254=) c.864C= (p.Phe288=) | |
2 | g.149570103G>T | CA1902269 | MMADHC | c.762C>A (p.Phe254Leu) c.864C>A (p.Phe288Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570104A= | CA1297264320 | MMADHC | c.761T= (p.Phe254=) c.863T= (p.Phe288=) | |
2 | g.149570104A>C | CA348869261 | MMADHC | c.761T>G (p.Phe254Cys) c.863T>G (p.Phe288Cys) | dbSNP gnomAD v4 |
2 | g.149570104A>G | CA348869263 | MMADHC | c.761T>C (p.Phe254Ser) c.863T>C (p.Phe288Ser) | |
2 | g.149570104A>T | CA348869266 | MMADHC | c.761T>A (p.Phe254Tyr) c.863T>A (p.Phe288Tyr) | gnomAD v4 |
2 | g.149570105A>C | CA348869268 | MMADHC | c.760T>G (p.Phe254Val) c.862T>G (p.Phe288Val) | |
2 | g.149570105A>G | CA348869270 | MMADHC | c.760T>C (p.Phe254Leu) c.862T>C (p.Phe288Leu) | |
2 | g.149570105A>T | CA348869273 | MMADHC | c.760T>A (p.Phe254Ile) c.862T>A (p.Phe288Ile) | |
2 | g.149570106T>A | CA10611311 | MMADHC | c.759A>T (p.Gly253=) c.861A>T (p.Gly287=) | ClinVar dbSNP gnomAD v2 |
2 | g.149570106T>C | CA429405930 | MMADHC | c.759A>G (p.Gly253=) c.861A>G (p.Gly287=) | COSMIC |
2 | g.149570106T>G | CA429405931 | MMADHC | c.759A>C (p.Gly253=) c.861A>C (p.Gly287=) | |
2 | g.149570106T= | CA1297264321 | MMADHC | c.759A= (p.Gly253=) c.861A= (p.Gly287=) | |
2 | g.149570107C>A | CA348869276 | MMADHC | c.758G>T (p.Gly253Val) c.860G>T (p.Gly287Val) | |
2 | g.149570107C>G | CA348869280 | MMADHC | c.758G>C (p.Gly253Ala) c.860G>C (p.Gly287Ala) | |
2 | g.149570107C>T | CA348869278 | MMADHC | c.758G>A (p.Gly253Glu) c.860G>A (p.Gly287Glu) | |
2 | g.149570108C>A | CA348869281 | MMADHC | c.757G>T (p.Gly253Ter) c.859G>T (p.Gly287Ter) | |
2 | g.149570108C= | CA1297264322 | MMADHC | c.757G= (p.Gly253=) c.859G= (p.Gly287=) | |
2 | g.149570108C>G | CA348869283 | MMADHC | c.757G>C (p.Gly253Arg) c.859G>C (p.Gly287Arg) | gnomAD v4 |
2 | g.149570108C>T | CA1902270 | MMADHC | c.757G>A (p.Gly253Arg) c.859G>A (p.Gly287Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570109T>A | CA348869286 | MMADHC | c.756A>T (p.Leu252Phe) c.858A>T (p.Leu286Phe) | |
2 | g.149570109T>C | CA429405933 | MMADHC | c.756A>G (p.Leu252=) c.858A>G (p.Leu286=) | |
2 | g.149570109T>G | CA1902271 | MMADHC | c.756A>C (p.Leu252Phe) c.858A>C (p.Leu286Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570109T= | CA1297264323 | MMADHC | c.756A= (p.Leu252=) c.858A= (p.Leu286=) | |
2 | g.149570110A= | CA1297264324 | MMADHC | c.755T= (p.Leu252=) c.857T= (p.Leu286=) | |
2 | g.149570110A>C | CA348869290 | MMADHC | c.755T>G (p.Leu252Ter) c.857T>G (p.Leu286Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570110A>G | CA348869291 | MMADHC | c.755T>C (p.Leu252Ser) c.857T>C (p.Leu286Ser) | |
2 | g.149570110A>T | CA348869294 | MMADHC | c.755T>A (p.Leu252Ter) c.857T>A (p.Leu286Ter) | |
2 | g.149570111A>C | CA348869296 | MMADHC | c.754T>G (p.Leu252Val) c.856T>G (p.Leu286Val) | |
2 | g.149570111A>G | CA429405934 | MMADHC | c.754T>C (p.Leu252=) c.856T>C (p.Leu286=) | |
2 | g.149570111A>T | CA348869298 | MMADHC | c.754T>A (p.Leu252Ile) c.856T>A (p.Leu286Ile) | |
2 | g.149570112A>C | CA348869300 | MMADHC | c.753T>G (p.His251Gln) c.855T>G (p.His285Gln) | |
2 | g.149570112A>G | CA429405935 | MMADHC | c.753T>C (p.His251=) c.855T>C (p.His285=) | gnomAD v4 |
2 | g.149570112A>T | CA348869302 | MMADHC | c.753T>A (p.His251Gln) c.855T>A (p.His285Gln) | |
2 | g.149570113T>A | CA348869308 | MMADHC | c.752A>T (p.His251Leu) c.854A>T (p.His285Leu) | |
2 | g.149570113T>C | CA348869307 | MMADHC | c.752A>G (p.His251Arg) c.854A>G (p.His285Arg) | gnomAD v4 |
2 | g.149570113T>G | CA348869304 | MMADHC | c.752A>C (p.His251Pro) c.854A>C (p.His285Pro) | |
2 | g.149570114G>A | CA348869310 | MMADHC | c.751C>T (p.His251Tyr) c.853C>T (p.His285Tyr) | COSMIC |
2 | g.149570114G>C | CA348869312 | MMADHC | c.751C>G (p.His251Asp) c.853C>G (p.His285Asp) | |
2 | g.149570114G>T | CA348869319 | MMADHC | c.751C>A (p.His251Asn) c.853C>A (p.His285Asn) | |
2 | g.149570115T>A | CA429405936 | MMADHC | c.750A>T (p.Arg250=) c.852A>T (p.Arg284=) | |
2 | g.149570115T>C | CA429405937 | MMADHC | c.750A>G (p.Arg250=) c.852A>G (p.Arg284=) | |
2 | g.149570115T>G | CA429405938 | MMADHC | c.750A>C (p.Arg250=) c.852A>C (p.Arg284=) |